Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5551
Gene name	Perforin 1
Gene symbol	PRF1
Synonyms (NCBI Gene)	HPLH2P1PFP
Chromosome	10
Chromosome location	10q22.1
Summary	This gene encodes a protein with structural similarities to complement component C9 that is important in immunity. This protein forms membrane pores that allow the release of granzymes and subsequent cytolysis of target cells. Whether pore formation occur

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SNP ID	Visualize variation	Clinical significance	Consequence
rs28933374	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs28933375	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs28933376	G>A	Pathogenic	Missense variant, coding sequence variant
rs28933973	G>A	Pathogenic	Missense variant, coding sequence variant
rs35418374	C>T	Pathogenic, benign, likely-benign	Missense variant, coding sequence variant
rs35947132	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign, likely-benign	Missense variant, coding sequence variant
rs104894176	C>T	Pathogenic	Stop gained, coding sequence variant
rs104894180	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs104894181	C>T	Pathogenic	Missense variant, coding sequence variant
rs104894182	C>T	Pathogenic	Missense variant, coding sequence variant
rs104894183	A>C	Pathogenic	Missense variant, coding sequence variant
rs138126912	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs141660796	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs142012387	G>C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs147035858	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs147462227	C>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs189650890	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs193302875	C>A	Pathogenic	Coding sequence variant, missense variant
rs193302876	G>A	Pathogenic	Coding sequence variant, stop gained
rs200430442	G>A	Pathogenic	Coding sequence variant, missense variant
rs202217604	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs751161742	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs751247865	G>T	Pathogenic	Coding sequence variant, missense variant
rs752858869	T>A	Pathogenic	Coding sequence variant, missense variant
rs768849283	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs771552960	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs776299562	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs786205093	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060499556	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1554867753	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1564723653	G>T	Pathogenic	Stop gained, coding sequence variant
rs1589233357	G>A	Likely-pathogenic	Coding sequence variant, stop gained

Show/Hide all (43)

miRTarBase ID	miRNA	Experiments	Reference
MIRT755480	hsa-miR-221-5p	Luciferase reporter assayWestern blottingqRT-PCR	36499501
MIRT1261237	hsa-miR-124	CLIP-seq
MIRT1261238	hsa-miR-145	CLIP-seq
MIRT1261239	hsa-miR-219-2-3p	CLIP-seq
MIRT1261240	hsa-miR-2682	CLIP-seq
MIRT1261241	hsa-miR-3147	CLIP-seq
MIRT1261242	hsa-miR-3185	CLIP-seq
MIRT1261243	hsa-miR-3675-5p	CLIP-seq
MIRT1261244	hsa-miR-3714	CLIP-seq
MIRT1261245	hsa-miR-3910	CLIP-seq
MIRT1261246	hsa-miR-3925-3p	CLIP-seq
MIRT1261247	hsa-miR-4283	CLIP-seq
MIRT1261248	hsa-miR-4423-3p	CLIP-seq
MIRT1261249	hsa-miR-4425	CLIP-seq
MIRT1261250	hsa-miR-4489	CLIP-seq
MIRT1261251	hsa-miR-4493	CLIP-seq
MIRT1261252	hsa-miR-449c	CLIP-seq
MIRT1261253	hsa-miR-4520a-3p	CLIP-seq
MIRT1261254	hsa-miR-4520b-3p	CLIP-seq
MIRT1261255	hsa-miR-4529-3p	CLIP-seq
MIRT1261256	hsa-miR-4640-5p	CLIP-seq
MIRT1261257	hsa-miR-4726-5p	CLIP-seq
MIRT1261258	hsa-miR-506	CLIP-seq
MIRT1261259	hsa-miR-7	CLIP-seq
MIRT1261260	hsa-miR-940	CLIP-seq
MIRT2076838	hsa-miR-127-5p	CLIP-seq
MIRT2076839	hsa-miR-3064-5p	CLIP-seq
MIRT2076840	hsa-miR-4679	CLIP-seq
MIRT2076838	hsa-miR-127-5p	CLIP-seq
MIRT2076839	hsa-miR-3064-5p	CLIP-seq
MIRT2076840	hsa-miR-4679	CLIP-seq
MIRT2457142	hsa-miR-1237	CLIP-seq
MIRT2457143	hsa-miR-1913	CLIP-seq
MIRT2457144	hsa-miR-324-3p	CLIP-seq
MIRT2457145	hsa-miR-4267	CLIP-seq
MIRT2457146	hsa-miR-4727-5p	CLIP-seq
MIRT2457142	hsa-miR-1237	CLIP-seq
MIRT2457143	hsa-miR-1913	CLIP-seq
MIRT2457144	hsa-miR-324-3p	CLIP-seq
MIRT2457145	hsa-miR-4267	CLIP-seq
MIRT2457146	hsa-miR-4727-5p	CLIP-seq
MIRT2688562	hsa-miR-556-5p	CLIP-seq
MIRT2688563	hsa-miR-610	CLIP-seq

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Transcription factor	Regulation	Reference
STAT4	Activation	12372421

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001771	Process	Immunological synapse formation	IBA
GO:0001771	Process	Immunological synapse formation	IDA	21438968
GO:0001772	Component	Immunological synapse	IEA
GO:0001772	Component	Immunological synapse	ISS
GO:0001778	Process	Plasma membrane repair	IDA	20530211
GO:0001909	Process	Leukocyte mediated cytotoxicity	IEA
GO:0001913	Process	T cell mediated cytotoxicity	IBA
GO:0001913	Process	T cell mediated cytotoxicity	IEA
GO:0001913	Process	T cell mediated cytotoxicity	ISS
GO:0002357	Process	Defense response to tumor cell	IBA
GO:0002357	Process	Defense response to tumor cell	IEA
GO:0002357	Process	Defense response to tumor cell	ISS
GO:0002418	Process	Immune response to tumor cell	IEA
GO:0002418	Process	Immune response to tumor cell	ISS
GO:0002839	Process	Positive regulation of immune response to tumor cell	IDA	32188940
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	ISS
GO:0005515	Function	Protein binding	IPI	11911826, 25416956, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005768	Component	Endosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA	20038786, 21037563
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006915	Process	Apoptotic process	TAS	10779745
GO:0006968	Process	Cellular defense response	TAS	10779745
GO:0009306	Process	Protein secretion	IEA
GO:0009306	Process	Protein secretion	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IDA	20889983
GO:0016020	Component	Membrane	IEA
GO:0017038	Process	Protein import	IDA	20038786
GO:0017038	Process	Protein import	IDA	20038786
GO:0017038	Process	Protein import	IEA
GO:0022829	Function	Wide pore channel activity	IBA
GO:0022829	Function	Wide pore channel activity	IDA	20038786, 20889983, 24558045
GO:0022829	Function	Wide pore channel activity	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031640	Process	Killing of cells of another organism	IEA
GO:0031904	Component	Endosome lumen	IEA
GO:0042802	Function	Identical protein binding	IPI	21037563, 21685908
GO:0044194	Component	Cytolytic granule	IDA	9756476, 24088571
GO:0044194	Component	Cytolytic granule	IEA
GO:0044194	Component	Cytolytic granule	ISS
GO:0046513	Process	Ceramide biosynthetic process	IDA	17303575
GO:0046872	Function	Metal ion binding	IEA
GO:0051260	Process	Protein homooligomerization	IDA	20889983
GO:0051260	Process	Protein homooligomerization	IEA
GO:0051604	Process	Protein maturation	IDA	21157428, 31953257, 32188940
GO:0051607	Process	Defense response to virus	IBA
GO:0051607	Process	Defense response to virus	IEA
GO:0051607	Process	Defense response to virus	ISS
GO:0051712	Process	Positive regulation of killing of cells of another organism	IDA	9756476
GO:0071806	Process	Protein transmembrane transport	IDA	20038786
GO:0071806	Process	Protein transmembrane transport	IDA	20038786, 24558045
GO:0071806	Process	Protein transmembrane transport	IEA
GO:0140507	Process	Granzyme-mediated programmed cell death signaling pathway	IDA	20038786, 31953257, 32188940
GO:0140507	Process	Granzyme-mediated programmed cell death signaling pathway	IEA
GO:0140507	Process	Granzyme-mediated programmed cell death signaling pathway	ISS
GO:0140911	Function	Pore-forming activity	IEA
GO:0141201	Process	Pyroptotic cell death	IDA	32188940, 37198476, 38614101
GO:1904856	Component	Cytolytic granule lumen	TAS

MIM	HGNC	e!Ensembl
170280	9360	ENSG00000180644

P14222

Protein name

Perforin-1 (P1) (Cytolysin) (Lymphocyte pore-forming protein) (PFP)

Protein function

Pore-forming protein that plays a key role in granzyme-mediated programmed cell death, and in defense against virus-infected or neoplastic cells (PubMed:20889983, PubMed:21037563, PubMed:24558045, PubMed:9058810, PubMed:9164947). Plays an import

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01823	MACPF	147 → 367	MAC/Perforin domain	Domain
PF00168	C2	415 → 508	C2 domain	Domain

Sequence

MAARLLLLGILLLLLPLPVPAPCHTAARSECKRSHKFVPGAWLAGEGVDVTSLRRSGSFP
VDTQRFLRPDGTCTLCENALQEGTLQRLPLALTNWRAQGSGCQRHVTRAKVSSTEAVARD
AARSIRNDWKVGLDVTPKPTSNVHVSVAGSHSQAANFAAQKTHQDQYSFSTDTVECRFYS
FHVVHTPPLHPDFKRALGDLPHHFNASTQPAYLRLISNYGTHFIRAVELGGRISALTALR
TCELALEGLTDNEVEDCLTVEAQVNIGIHGSISAEAKACEEKKKKHKMTASFHQTYRERH
SEVVGGHHTSINDLLFGIQAGPEQYSAWVNSLPGSPGLVDYTLEPLHVLLDSQDPRREAL
RRALSQYLTDRARWRDCSRPCPPGRQKSPRDPCQCVCHGSAVTTQDCCPRQRGLAQLEVT
FIQAWGLWGDWFTATDAYVKLFFGGQELRTSTVWDNNNPIWSVRLDFGDVLLATGGPLRL
QVWDQDSGRDDDLLGTCDQAPKSGSHEVRCNLNHGHLKFRYHARCLPHLGGGTCLDYVPQ
MLLGEPPGNRSGAVW

Sequence length

555

Interactions

View interactions

	KEGG
	Apoptosis Natural killer cell mediated cytotoxicity Type I diabetes mellitus Autoimmune thyroid disease Allograft rejection Graft-versus-host disease Viral myocarditis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Aplastic anemia	Likely pathogenic; Pathogenic	rs761310644, rs902124045, rs1361687182, rs1324261340, rs139322149, rs760379846, rs774071705, rs758728749, rs1454231642, rs768953378, rs1259291325, rs748926167, rs150558419, rs752608972, rs2493482370 View all (53 more)	RCV005040164 RCV003462895 RCV003469557 RCV005040199 RCV002499783 View all (65 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autoinflammatory syndrome	Likely pathogenic; Pathogenic	rs1259291325, rs2132474852, rs2132477884, rs104894176, rs28933973, rs147035858	RCV002261417 RCV002261994 RCV002262001 RCV002260963 RCV002260964 RCV002261110 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial hemophagocytic lymphohistiocytosis	Likely pathogenic; Pathogenic	rs761310644, rs902124045, rs1361687182, rs1848222357, rs139322149, rs1848219856, rs758728749, rs2132475562, rs150558419, rs766783280, rs773267292, rs2493483138, rs1415842374, rs1306495405, rs751247865 View all (18 more)	RCV005438068 RCV004699307 RCV001328348 RCV003230662 RCV002271649 View all (28 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial hemophagocytic lymphohistiocytosis 2	Likely pathogenic; Pathogenic	rs2132476466, rs761310644, rs902124045, rs1361687182, rs1848222357, rs1324261340, rs139322149, rs760379846, rs2132475735, rs774071705, rs758728749, rs2132476029, rs2132476381, rs1454231642, rs2132477913 View all (84 more)	RCV001594429 RCV001370616 RCV001321952 RCV003514497 RCV001330253 View all (98 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial hemophagocytic lymphohistiocytosis type 1	Pathogenic	rs28933973	RCV004814906	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphoma, non-Hodgkin, familial	Likely pathogenic; Pathogenic	rs761310644, rs902124045, rs1324261340, rs139322149, rs760379846, rs758728749, rs1259291325, rs752608972, rs755737064, rs1306495405, rs751247865, rs2493484435, rs550073023, rs763002067, rs104894176 View all (9 more)	RCV005040164 RCV005050331 RCV005040199 RCV002499783 RCV005050366 View all (19 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PRF1-related disorder	Pathogenic; Likely pathogenic	rs760379846, rs1037706456, rs1848174771, rs578092914, rs147035858	RCV004754747 RCV003416883 RCV003984435 RCV004754465 RCV003419965	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANEMIA, APLASTIC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APLASTIC ANEMIA, IDIOPATHIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHNS DISEASE OF LARGE BOWEL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HEMOPHAGOCYTIC LYMPHOCYTOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to	Conflicting classifications of pathogenicity; risk factor	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC APLASTIC ANEMIA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONALCOHOLIC STEATOHEPATITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pelizaeus-Merzbacher disease	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

PRF1 (perforin 1)